A change in the sequence of DNA. Mutations occurring in genes may prevent them from working properly, which might result in disease (a genetic condition). Mutations occur naturally at a low rate, but can also be induced by radiation and some chemicals.
Confusion over results obtained through a national screening programme for cystic fibrosis (CF) in the US may have lead to some women having unnecessary prenatal tests, according to a report in New Scientist. At a recent conference, the American College of Medical Genetics (ACMG) warned delegates that some genetic tests...
UK scientists have discovered that alterations in a single gene could increase the risk of several autoimmune disorders, including Type 1 diabetes, Graves disease and autoimmune hypothyroidism. The researchers, based at the Universities of Cambridge and Birmingham in the UK, published their findings in the journal Nature online. Autoimmune disorders...
Two new studies have shown that alterations in a single gene are associated with severe obesity and 'binge-eating' behaviour in some people. A team at Cambridge University in the UK found that around five or six per cent of severely obese people studied inherited a particular version of a gene...
A new study suggests that children born as a result of assisted reproduction technologies may have a greater risk of particular hereditary birth defects than children who are naturally conceived. A team of researchers from Johns Hopkins University and the University of Washington in the US studied a national registry...
Trials of gene therapy in the treatment of Parkinson's disease are to begin in the US. The treatment has been authorised by the US Food and Drugs Administration (FDA) following publication of successful results in rats with a Parkinson's-like condition in the journal Science. The particular gene therapy that will...
Researchers have come up with a genetic reason why Jewish people typically have fewer alcohol problems than non-Jews. The new study, published in the journal Alcoholism: Clinical and Experimental Research, shows that a single gene mutation carried by more than a fifth of all Jews seems to protect them against...
Scientists have discovered a gene that is responsible for an inherited form of cleft lip and palate. A pair of twins born in Brazil were found to be genetically identical, but a doctor noticed that one of them had been born with a cleft palate, while the other had not...
A gene that may be responsible for the development of speech in humans has been discovered by scientists working for the Max Planck Institute in Leipzig, Germany. The ability to communicate and organise through speech and language is one of the the main differences between humans and other animals. People...
New treatments for asthma may be developed thanks to the discovery of a genetic link to the condition. Scientists from the UK's Medical Research Council and the Schering Plough Research Institute in the US have located a gene that is a major contributor to asthma in a large number of...
Scientists from the Cancer Genome Project (CGP) at the Wellcome Trust Sanger Institute in Cambridge, UK, have discovered that a mutation in a single gene - called BRAF - is a common element in approximately 70 per cent of malignant skin cancers. The mutation is similar to another that is known to...
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